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Basic Science and Pathogenesis.

Emanuele Panza1,2, Arun Meyyazhagan3, Eliseo Picchi4

  • 1University of Bologna, Bologna, Italy.

Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 29, 2025
PubMed
Summary

This study identified new SPG4/SPAST gene mutations in hereditary spastic paraplegia (HSP) patients, revealing population-specific differences and a novel association with Alzheimer's disease (AD). Findings expand the SPG4 clinical spectrum and inform future research.

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders causing progressive lower limb weakness and spasticity.
  • Mutations in the SPG4/SPAST gene are the most frequent cause of HSP, yet comprehensive international studies are lacking.

Purpose of the Study:

  • To investigate the clinical and molecular spectrum of SPG4/SPAST mutations in a diverse international cohort of HSP patients.
  • To identify population-specific genetic variations and novel genotype-phenotype correlations in HSP.

Main Methods:

  • Direct and Next-Generation Sequencing were used to detect SPG4/SPAST variants in 726 HSP patients from Italy, Brazil, and Japan.
  • Familial segregation and in silico analysis confirmed the pathogenicity of novel variants.

Main Results:

  • 52 pathogenic SPG4/SPAST mutations were identified in 284 patients, with 20 missense mutations (four novel) and population-specific variants noted.
  • A significant finding was the co-occurrence of HSP with a novel form of Alzheimer's disease (AD) in 28 patients, confirmed by autopsy in four cases.
  • Intellectual disability and thin corpus callosum were observed in 18 patients with SPG4/SPAST mutations.

Conclusions:

  • The study expands the known clinical spectrum of HSP associated with SPG4/SPAST mutations.
  • A novel association between HSP-SPG4 and an atypical form of Alzheimer's disease was discovered.
  • Genotype-phenotype correlations provide insights for patient counseling and future research directions.